Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03298:L3mbtl3'

416143

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

L3mbtl3

Ensembl Gene

ENSMUSG00000039089

Gene Name

L3MBTL3 histone methyl-lysine binding protein

Synonyms

MBT-1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03298

Quality Score

Status

Chromosome

Chromosomal Location

26150366-26251967 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26158696 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 651 (T651A)

Ref Sequence

ENSEMBL: ENSMUSP00000133479 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040219] [ENSMUST00000105519] [ENSMUST00000174766]

AlphaFold

Q8BLB7

Predicted Effect

unknown
Transcript: ENSMUST00000040219
AA Change: T651A

SMART Domains

Protein: ENSMUSP00000037619
Gene: ENSMUSG00000039089
AA Change: T651A

Domain	Start	End	E-Value	Type
low complexity region	154	166	N/A	INTRINSIC
low complexity region	204	214	N/A	INTRINSIC
MBT	232	332	3.75e-48	SMART
MBT	340	439	3.67e-42	SMART
MBT	448	543	7.5e-48	SMART
low complexity region	604	615	N/A	INTRINSIC
low complexity region	662	770	N/A	INTRINSIC
SAM	808	875	2.49e-13	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000105519
AA Change: T626A

SMART Domains

Protein: ENSMUSP00000101158
Gene: ENSMUSG00000039089
AA Change: T626A

Domain	Start	End	E-Value	Type
low complexity region	129	141	N/A	INTRINSIC
low complexity region	179	189	N/A	INTRINSIC
MBT	207	307	3.75e-48	SMART
MBT	315	414	3.67e-42	SMART
MBT	423	518	7.5e-48	SMART
low complexity region	579	590	N/A	INTRINSIC
low complexity region	637	745	N/A	INTRINSIC
SAM	783	850	2.49e-13	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000174766
AA Change: T651A

SMART Domains

Protein: ENSMUSP00000133479
Gene: ENSMUSG00000039089
AA Change: T651A

Domain	Start	End	E-Value	Type
low complexity region	154	166	N/A	INTRINSIC
low complexity region	204	214	N/A	INTRINSIC
MBT	232	332	3.75e-48	SMART
MBT	340	439	3.67e-42	SMART
MBT	448	543	7.5e-48	SMART
low complexity region	604	615	N/A	INTRINSIC
low complexity region	662	770	N/A	INTRINSIC
SAM	808	875	2.49e-13	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218585

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the malignant brain tumor (MBT) family of chromatin interacting transcriptional repressors. Members of this family function as methyl-lysine readers, which recognize methylated lysine residues on histone protein tails, and are associated with the repression of gene expression. The encoded protein may regulate hematopoiesis. Homozygous deletion of this gene has been observed in human patients with medulloblastoma. [provided by RefSeq, Oct 2016]
PHENOTYPE: Mice homozygous for a null mutation die between E17.5 ? 19.5 due to disturbed erythropoiesis which result in anemia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,520,923 (GRCm39)	T1344A	probably benign	Het
Abcc4	C	A	14: 118,848,880 (GRCm39)	D491Y	probably damaging	Het
Casp2	C	T	6: 42,245,924 (GRCm39)		probably benign	Het
Ccnb2	T	C	9: 70,326,156 (GRCm39)	T63A	probably benign	Het
Cgrrf1	A	G	14: 47,083,778 (GRCm39)	I187V	probably benign	Het
Clstn2	C	T	9: 97,338,625 (GRCm39)	V845M	probably damaging	Het
Dmxl1	T	C	18: 49,997,885 (GRCm39)	M691T	probably benign	Het
Dnhd1	T	G	7: 105,363,682 (GRCm39)	I4081M	probably damaging	Het
H2-T3	T	C	17: 36,500,320 (GRCm39)	Y125C	probably damaging	Het
Kif1a	T	A	1: 92,993,903 (GRCm39)	D349V	probably damaging	Het
Megf10	C	T	18: 57,416,910 (GRCm39)	Q760*	probably null	Het
Mroh7	T	A	4: 106,571,288 (GRCm39)	K22*	probably null	Het
Or4f53	A	T	2: 111,087,879 (GRCm39)	M140L	probably benign	Het
Or7g29	A	T	9: 19,286,358 (GRCm39)	V273E	probably damaging	Het
Ppp6r3	A	T	19: 3,571,829 (GRCm39)	Y107N	probably damaging	Het
Reln	T	A	5: 22,115,834 (GRCm39)	Q3058L	probably damaging	Het
Ss18	T	C	18: 14,812,484 (GRCm39)	M36V	possibly damaging	Het
Tlr7	C	A	X: 166,089,703 (GRCm39)	K594N	probably benign	Het
Trim10	A	G	17: 37,187,917 (GRCm39)	S378G	possibly damaging	Het
Zfp644	A	G	5: 106,782,967 (GRCm39)	S1105P	possibly damaging	Het

Other mutations in L3mbtl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00905:L3mbtl3	APN	10	26,189,744 (GRCm39)	critical splice donor site	probably null
IGL01357:L3mbtl3	APN	10	26,206,083 (GRCm39)	missense	unknown
IGL01712:L3mbtl3	APN	10	26,152,133 (GRCm39)	missense	probably damaging	0.96
IGL01759:L3mbtl3	APN	10	26,207,798 (GRCm39)	missense	unknown
IGL01928:L3mbtl3	APN	10	26,206,143 (GRCm39)	missense	unknown
IGL01955:L3mbtl3	APN	10	26,194,336 (GRCm39)	missense	unknown
IGL02674:L3mbtl3	APN	10	26,158,711 (GRCm39)	missense	unknown
IGL02731:L3mbtl3	APN	10	26,220,074 (GRCm39)	critical splice donor site	probably null
IGL03188:L3mbtl3	APN	10	26,218,515 (GRCm39)	missense	unknown
IGL03252:L3mbtl3	APN	10	26,207,710 (GRCm39)	splice site	probably benign
IGL03400:L3mbtl3	APN	10	26,191,424 (GRCm39)	missense	unknown
R0121:L3mbtl3	UTSW	10	26,189,768 (GRCm39)	missense	unknown
R0468:L3mbtl3	UTSW	10	26,203,630 (GRCm39)	missense	unknown
R0497:L3mbtl3	UTSW	10	26,158,772 (GRCm39)	splice site	probably benign
R0586:L3mbtl3	UTSW	10	26,203,732 (GRCm39)	missense	unknown
R0633:L3mbtl3	UTSW	10	26,178,583 (GRCm39)	missense	unknown
R0679:L3mbtl3	UTSW	10	26,189,831 (GRCm39)	nonsense	probably null
R1302:L3mbtl3	UTSW	10	26,203,667 (GRCm39)	missense	unknown
R2128:L3mbtl3	UTSW	10	26,189,766 (GRCm39)	missense	unknown
R2267:L3mbtl3	UTSW	10	26,207,755 (GRCm39)	nonsense	probably null
R3121:L3mbtl3	UTSW	10	26,220,119 (GRCm39)	intron	probably benign
R3410:L3mbtl3	UTSW	10	26,215,197 (GRCm39)	missense	unknown
R4237:L3mbtl3	UTSW	10	26,216,846 (GRCm39)	missense	unknown
R4257:L3mbtl3	UTSW	10	26,156,020 (GRCm39)	missense	unknown
R4308:L3mbtl3	UTSW	10	26,158,690 (GRCm39)	missense	unknown
R4359:L3mbtl3	UTSW	10	26,203,639 (GRCm39)	missense	unknown
R4407:L3mbtl3	UTSW	10	26,189,782 (GRCm39)	missense	unknown
R4613:L3mbtl3	UTSW	10	26,158,693 (GRCm39)	missense	unknown
R4663:L3mbtl3	UTSW	10	26,213,715 (GRCm39)	missense	unknown
R4843:L3mbtl3	UTSW	10	26,207,777 (GRCm39)	missense	unknown
R4886:L3mbtl3	UTSW	10	26,168,668 (GRCm39)	missense	unknown
R5158:L3mbtl3	UTSW	10	26,179,586 (GRCm39)	missense	unknown
R5247:L3mbtl3	UTSW	10	26,203,706 (GRCm39)	missense	unknown
R5580:L3mbtl3	UTSW	10	26,179,604 (GRCm39)	missense	unknown
R5966:L3mbtl3	UTSW	10	26,207,762 (GRCm39)	missense	unknown
R6218:L3mbtl3	UTSW	10	26,168,645 (GRCm39)	missense	unknown
R6508:L3mbtl3	UTSW	10	26,194,325 (GRCm39)	missense	unknown
R6563:L3mbtl3	UTSW	10	26,178,761 (GRCm39)	splice site	probably null
R6709:L3mbtl3	UTSW	10	26,158,695 (GRCm39)	missense	unknown
R6927:L3mbtl3	UTSW	10	26,168,567 (GRCm39)	nonsense	probably null
R6984:L3mbtl3	UTSW	10	26,158,753 (GRCm39)	missense	unknown
R7010:L3mbtl3	UTSW	10	26,158,759 (GRCm39)	critical splice acceptor site	probably null
R7229:L3mbtl3	UTSW	10	26,168,560 (GRCm39)	missense	unknown
R7231:L3mbtl3	UTSW	10	26,215,180 (GRCm39)	missense	unknown
R7296:L3mbtl3	UTSW	10	26,158,728 (GRCm39)	missense	unknown
R7363:L3mbtl3	UTSW	10	26,216,850 (GRCm39)	missense	unknown
R7490:L3mbtl3	UTSW	10	26,215,129 (GRCm39)	missense	unknown
R7775:L3mbtl3	UTSW	10	26,228,215 (GRCm39)	missense	unknown
R7815:L3mbtl3	UTSW	10	26,156,276 (GRCm39)	missense	unknown
R8272:L3mbtl3	UTSW	10	26,179,566 (GRCm39)	missense	unknown
R8762:L3mbtl3	UTSW	10	26,152,121 (GRCm39)	missense	probably damaging	1.00
R8925:L3mbtl3	UTSW	10	26,220,084 (GRCm39)	missense	unknown
R8927:L3mbtl3	UTSW	10	26,220,084 (GRCm39)	missense	unknown
R9043:L3mbtl3	UTSW	10	26,156,152 (GRCm39)	missense	unknown
R9228:L3mbtl3	UTSW	10	26,212,155 (GRCm39)	missense	unknown
Z1177:L3mbtl3	UTSW	10	26,178,561 (GRCm39)	missense	unknown
Z1177:L3mbtl3	UTSW	10	26,156,300 (GRCm39)	nonsense	probably null

Posted On

2016-08-02